Variant report

Variant	rs1984857
Chromosome Location	chr8:6389714-6389715
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1807209	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1984859	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.93[YRI][hapmap]
rs1984860	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1989105	0.88[EUR][1000 genomes]
rs2442600	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2442605	0.84[LWK][hapmap];0.84[MKK][hapmap];0.96[YRI][hapmap]
rs2442607	0.96[YRI][hapmap]
rs2515464	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2515471	0.96[YRI][hapmap]
rs2515472	0.81[AFR][1000 genomes]
rs2515475	0.84[LWK][hapmap];0.84[MKK][hapmap];0.93[YRI][hapmap]
rs2515477	0.84[LWK][hapmap];0.84[MKK][hapmap];0.96[YRI][hapmap]
rs2515480	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515481	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515483	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2959809	1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2959811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2959814	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6990020	0.90[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890034	chr8:5926632-6427868	Enhancers Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1021175	chr8:5965453-6880364	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1027682	chr8:6018123-6920312	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	esv3506199	chr8:6116693-6536592	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
5	esv3506200	chr8:6116693-6536592	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv933282	chr8:6261036-6440592	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1015981	chr8:6286575-6578450	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
8	nsv1027313	chr8:6286575-6920312	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv890057	chr8:6317165-6427868	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1021684	chr8:6350091-6809455	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
11	nsv1022895	chr8:6355213-6414874	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv933260	chr8:6357124-6410013	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	esv2422383	chr8:6362389-6781593	Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
14	esv1798473	chr8:6385839-6391304	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6342400-6421400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr8:6345800-6402400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:6352400-6391400	Weak transcription	Ovary	ovary
4	chr8:6357800-6391400	Weak transcription	Colonic Mucosa	Colon
5	chr8:6364200-6417200	Weak transcription	Fetal Kidney	kidney
6	chr8:6364200-6478200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr8:6366800-6389800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr8:6367200-6417000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr8:6368800-6392200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:6370200-6400800	Weak transcription	Fetal Intestine Small	intestine
11	chr8:6370400-6391200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr8:6370400-6400200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr8:6370400-6402600	Weak transcription	GM12878-XiMat	blood
14	chr8:6370400-6403000	Weak transcription	Primary B cells from cord blood	blood
15	chr8:6370400-6405000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr8:6373200-6390200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr8:6373600-6391400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr8:6373600-6420200	Weak transcription	Esophagus	oesophagus
19	chr8:6373800-6390800	Weak transcription	Fetal Muscle Leg	muscle
20	chr8:6374800-6390400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:6374800-6408800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:6375200-6404400	Weak transcription	NHEK	skin
23	chr8:6377000-6398200	Weak transcription	Spleen	Spleen
24	chr8:6377400-6389800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr8:6377400-6396000	Weak transcription	Aorta	Aorta
26	chr8:6377400-6398000	Weak transcription	Left Ventricle	heart
27	chr8:6377400-6398600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr8:6377400-6400800	Weak transcription	Thymus	Thymus
29	chr8:6377400-6405600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:6377400-6414600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:6377600-6389800	Weak transcription	Gastric	stomach
32	chr8:6377600-6390000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr8:6377600-6390800	Weak transcription	Fetal Stomach	stomach
34	chr8:6378000-6395800	Weak transcription	Lung	lung
35	chr8:6380800-6390400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr8:6382400-6391800	Weak transcription	Adipose Nuclei	Adipose
37	chr8:6385800-6390600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr8:6386000-6390200	Strong transcription	Dnd41	blood
39	chr8:6386200-6417400	Weak transcription	Pancreas	Pancrea
40	chr8:6386400-6389800	Weak transcription	Psoas Muscle	Psoas
41	chr8:6386600-6390200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr8:6386600-6390600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr8:6386800-6391800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr8:6386800-6393800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr8:6386800-6405800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:6387000-6403800	Weak transcription	Primary T cells from cord blood	blood
47	chr8:6387400-6398000	Weak transcription	HUVEC	blood vessel
48	chr8:6388200-6390000	Strong transcription	Fetal Thymus	thymus
49	chr8:6388400-6390400	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr8:6388400-6391400	Strong transcription	Placenta	Placenta

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